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  3. TRAPPC6B
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DDG2P

Gene: TRAPPC6B

Green List (high evidence)
TRAPPC6B (trafficking protein particle complex 6B)
EnsemblGeneIds (GRCh38): ENSG00000182400
EnsemblGeneIds (GRCh37): ENSG00000182400
OMIM: 610397, Gene2Phenotype
TRAPPC6B is in 4 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for TRAPPC6B-related neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy are strong, biallelic_autosomal and loss of function (PMIDs: 28626029, 31687267, 37713627, 40350395). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03770.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MONDO:0060640; OMIM:617862.0; TRAPPC6B-related neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy

Publications

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • TRAPPC6B-related neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
  • MONDO:0060640
  • OMIM:617862.0
OMIM
610397
Clinvar variants
Variants in TRAPPC6B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: TRAPPC6B was added gene: TRAPPC6B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TRAPPC6B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAPPC6B were set to 31687267; 40350395; 37713627; 28626029 Phenotypes for gene: TRAPPC6B were set to TRAPPC6B-related neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy; MONDO:0060640; OMIM:617862.0